Canonical Allele Identifier: CA345392604

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925879C>T (hg19) ; chr1:g.236762579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762579C>T , CM000663.2:g.236762579C>T	GRCh38
NC_000001.10:g.236925879C>T , CM000663.1:g.236925879C>T	GRCh37
NC_000001.9:g.234992502C>T	NCBI36
NG_009081.1:g.81110C>T
NG_009081.2:g.103439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2645C>T	ENSP00000443495.1:p.Ala882Val
ENST00000461367.2:n.941C>T
ENST00000492634.7:n.2575C>T
ENST00000682015.1:c.2552C>T	ENSP00000506961.1:p.Ala851Val
ENST00000682490.1:n.563C>T
ENST00000682692.1:n.3740C>T
ENST00000682966.1:n.8286C>T
ENST00000683111.1:c.*1931C>T	ENSP00000507913.1:n.*1931C>T
ENST00000683322.1:n.3997C>T
ENST00000683805.1:n.1436C>T
ENST00000684050.1:n.5283C>T
ENST00000684122.1:n.2079C>T
ENST00000684286.1:n.4200C>T
ENST00000684502.1:n.3942C>T
ENST00000684763.1:n.1260C>T
ENST00000366578.6:c.2645C>T MANE Select	ENSP00000355537.4:p.Ala882Val
ENST00000492634.6:n.2575C>T
ENST00000542672.6:c.2645C>T	ENSP00000443495.1:p.Ala882Val
ENST00000651091.1:c.2335C>T	ENSP00000498677.1:n.2335C>T
ENST00000651275.1:c.2537C>T	ENSP00000498926.1:p.Ala846Val
ENST00000651781.1:c.1725C>T
ENST00000651786.1:c.*2017C>T	ENSP00000498364.1:n.*2017C>T
ENST00000652096.1:c.*2050C>T	ENSP00000498896.1:n.*2050C>T
ENST00000366578.5:c.2645C>T	ENSP00000355537.4:p.Ala882Val
ENST00000542672.5:c.2645C>T	ENSP00000443495.1:p.Ala882Val
ENST00000546208.5:c.2021C>T	ENSP00000438384.2:p.Ala674Val
NM_001103.3:c.2645C>T	NP_001094.1:p.Ala882Val
NM_001278343.1:c.2645C>T	NP_001265272.1:p.Ala882Val
NM_001278344.1:c.2021C>T	NP_001265273.1:p.Ala674Val
NM_001278343.2:c.2645C>T	NP_001265272.1:p.Ala882Val
NM_001103.4:c.2645C>T MANE Select	NP_001094.1:p.Ala882Val
NM_001278344.2:c.2021C>T	NP_001265273.1:p.Ala674Val